Table 1 Penetrance of defects in late stage embryos, with 3 different Cecr2 mutations on 3 different genetic backgrounds.

Background	Genotype	Exencephaly^a	Coloboma	Microphthalmia	Polydactyly	Heart VSD defect	Heart PV defect	Duplex kidney^b
C57Bl/6J	Cecr2^Tm2b/Tm2b	68/72 (94%)	59/72 (82%)	6/72 (8.3%)	36/72 (50%)	5/22 (23%)^c	5/7 (71%)^d	1/30 (3.3%)
	Cecr2^Tm2b/⁺	1/197 (0.5%)	1/197 (0.5%)	0/197 (0%)	14/197 (7.1%)	ND	ND	ND
	Cecr2^+/+	0/95 (0%)	0/95 (0%)	0/95 (0%)	0/95 (0%)	0/22 (0%)	0/7 (0%)	ND
	Cecr2^Del/Del	27/29 (93%)	17/29 (59%)	3/29 (10%)	12/29 (41%)	ND	2/2 (100%)	ND
	Cecr2^Del/⁺	2/76 (2.6%)	1/76 (1.3%)	1/76 (1.3%)	1/76 (1.3%)	ND	ND	ND
	Cecr2^+/+	0/29 (0%)	0 /29 (0%)	0/29 (0%)	0/29 (0%)	ND	ND	ND
BALB/cCrlAlt	Cecr2^Tm2b/Tm2b	47/48 (98%)	0/27 (0%)	0/27 (0%)	32/48 (67%)	0/26 (0%)	3/3 (100%)	0/27 (0%)^e
	Cecr2^Tm2b/⁺	1/131 (0.8%)	0/48 (0%)	0/48 (0%)	13/131 (9.9%)	ND	ND	ND
	Cecr2^+/+	0/70	0/2 (0%)	0/2 (0%)	0/70	0/9 (0%)	0/2 (0%)	ND
	Cecr2^Del/Del	96%^g	0/7 (0%)	0/7 (0%)	11/15 (73%)	ND	3/3 (100%)	ND
	Cecr2^Del/⁺	ND	ND	ND	ND	ND	ND	ND
	Cecr2^+/+	0%^g	0/2 (0%)	0/2 (0%)	ND	ND	0/1 (0%)	ND
FVB	Cecr2^GT/GT	0%^h	ND	ND	ND	ND	ND	8/20 (40%)^f
	Cecr2^Del/Del	31%^g	ND	ND	ND	ND	ND	13/27 (48%)
	Cecr2^+/+	0%^h	ND	ND	ND	ND	ND	0/9 (0%)

Numbers represents the number of embryos (ND = not done).
^aExencephaly penetrance applies only to the coloboma/micropthalmia/polydactyly datasets.
^bAt least one duplex kidney present in the embryo.
^cIn addition 2/22 showed hypoplastic RV, which was not seen in wildtype controls.
^d1/7 showed a defect of the great vessels, and 2/7 showed abnormal vessels from the right lung to the RSVC.
^e1/27 had one kidney with a central cavity which may have been hydronephrotic and duplex.
^f168 adults were also examined: 16 (9.5%) had unilateral agenesis, 3 (1.7%) had hydronephrosis.
^gFairbridge et al., 2010.
^hBanting et al., 2005.

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